ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2582+7C>A

gnomAD frequency: 0.00001  dbSNP: rs766415474
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002526495 SCV000561765 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502594 SCV000597445 likely benign not specified 2020-02-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541503 SCV004762983 likely benign TERT-related disorder 2020-03-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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